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Tay-Sachs Disease

Tay-Sachs Disease. By: Brianna Pinto, Siobhan McCarthy and Kiley McArtney . What is it?. Tay-Sachs disease is when fatty substances cannot be broken down because there is an enzyme missing. Therefore, fat accumulates so much that cells can no longer function. Symptoms .

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Tay-Sachs Disease

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  1. Tay-Sachs Disease By: Brianna Pinto, Siobhan McCarthy and Kiley McArtney

  2. What is it? Tay-Sachs disease is when fatty substances cannot be broken down because there is an enzyme missing. Therefore, fat accumulates so much that cells can no longer function.

  3. Symptoms • Deterioration of the nervous system, affecting the brain. • Seizures • Blindness • Paralysis • Mental retardation • Clumsiness • Loss of coordination • Mood swings • Muscle weakness/twitching • Slurred speech

  4. Treatment • There is no effective treatment for this disease. However, there are screening and prevention programs available.

  5. How is it inherited? Tay-Sachs disease is located on Chromosome 15. This chromosome produces the enzyme hex A. the enzyme prevents that abnormal build up of GM2 (Lipid that destroys cells). There is a 50% chance of passing the disease down to offspring.

  6. Bibliography • Tay-Sachs Disease (Genetic Diseases and disorders by Julie Walker. • Human Diseases and Conditions by Neil Izenberg, M.D.

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